Abstract：
Objective: To analyze the clinical and immunological characteristics of a patient with activated phosphoinositide 3-kinase δ syndrome 2 (APDS2). Methods: A retrospective analysis of clinical data, immune-related gene sequencing, imaging and laboratory findings of a patient with APDS2 admitted to Children\'s Hospital of Chongqing Medical University was performed. The absolute and relative numbers of peripheral lymphocyte subsets, immune cell subsets and phenotypes were detected by flow cytometry with the age matched healthy child or the patient\'s father as a control. Results: A female patient aged 6 years and 4 months old was firstly admitted due to paleness over one month and cough for 7 days in June 2017. The IgA (<0.067 g/L) decreased while the IgM (2.55 g/L) increased. The abdominal ultrasound found hepatomegaly (subcostal 1.7 cm) and splenomegaly (subcostal 3.6 cm), and gene sequencing revealed a heterozygous mutation in the PIK3R1 gene c.1425+1G>A. After the treatment with prednisone which was initiated with a dose of 10 mg/times, 3 times/d and continued and tapered over 7 months, the IgM decreased to normal (1.72 g/L), and the hepatomegaly (subcostal 0 cm) and splenomegaly (subcostal 0.5 cm) were improved. The patient was readmitted due to pale and sallow complexion for half a month in July 2019. The percentage of naive CD4(+)T (0.386) and naive CD8(+)T cells (0.271) were decreased while the percentage of terminally differentiated effector memory CD8(+)T cells (0.377) and transitional B cells (0.223) were increased. The mean fluorescence intensity (MFI) of phosphorylated protein kinase B (AKT) in CD3(+)T, CD4(+)T and CD8(+)T cells were higher in the patient (4 125, 5 213, 3 497) than those in her father (3 434, 3 312, 3 058). The percentage of follicular helper T cell (Tfh) (0.299), Th1 (0.491) and Th1-like cells (0.438) in the patient were higher than those in the healthy control (0.156,0.313,0.303), while the percentage of Th17 (0.126) and Th17-like cells (0.188) were lower than those in the healthy control (0.198, 0.315). And the percentage of CD57 in the patient (0.306) was also higher than that in the healthy control (0.246). Conclusions: The humoral immunity and cellular immunity of APDS2 patient are impaired to varying degrees. The steroid can improve the lymphoproliferation and autoimmune hemolytic anemia in this case.
目的： 分析2型PI3Kδ过度活化综合征（APDS2）患儿的临床与免疫学特征。 方法： 回顾性分析重庆医科大学附属儿童医院收治的1例APDS2患儿临床资料、免疫相关基因测序、影像学和实验室检查结果，利用流式细胞术对患儿淋巴细胞亚群及其表型进行检测,并以正常同龄儿童或患儿父亲为对照进行对比分析。 结果： 患儿 女，6岁4月龄，因\"面色苍白1个月余，咳嗽7 d\"于2017年6月首次入院，IgA（<0.067 g/L）降低伴IgM（2.55 g/L）升高，腹部超声提示肝脏（肋下1.7 cm）和脾脏（肋下3.6 cm）肿大，基因测序显示患儿PIK3R1基因c.1425+1G>A杂合突变，予醋酸泼尼松（10 mg/次，3次/d，逐渐减量）口服治疗7个月，患儿IgM降至正常（1.72 g/L），肝脾缩小（肝肋下0 cm，脾肋下0.5 cm）。2019年7月因\"面色苍黄半个月\"二次入院，精细免疫分型提示初始CD4(+)T细胞（0.386）和初始CD8(+)T细胞（0.271）比例降低，终末分化效应记忆CD8(+)T细胞（0.377）和过渡性B细胞（0.223）比例增高。患儿CD3(+)T、CD4(+)T、CD8(+)T细胞（4 125、5 213、3 497）磷酸化蛋白激酶B（AKT）的平均荧光强度峰值高于其父亲（3 434、3 312、3 058）。患儿滤泡辅助T细胞（0.299）、Th1（0.491）和类Th1（0.438）比例高于正常儿童（0.156、0.313、0.303），而Th17（0.126）和类Th17（0.188）比例低于正常儿童（0.198，0.315）。患儿T细胞衰老指标CD57比例（0.306）高于正常儿童（0.246）。 结论： APDS2患儿体液免疫和细胞免疫均有不同程度受损，激素治疗对其淋巴组织增生和自身免疫性溶血性贫血等临床症状有一定改善。.
目的： 分析2型PI3Kδ过度活化综合征（APDS2）患儿的临床与免疫学特征。 方法： 回顾性分析重庆医科大学附属儿童医院收治的1例APDS2患儿临床资料、免疫相关基因测序、影像学和实验室检查结果，利用流式细胞术对患儿淋巴细胞亚群及其表型进行检测,并以正常同龄儿童或患儿父亲为对照进行对比分析。 结果： 患儿 女，6岁4月龄，因\"面色苍白1个月余，咳嗽7 d\"于2017年6月首次入院，IgA（<0.067 g/L）降低伴IgM（2.55 g/L）升高，腹部超声提示肝脏（肋下1.7 cm）和脾脏（肋下3.6 cm）肿大，基因测序显示患儿PIK3R1基因c.1425+1G>A杂合突变，予醋酸泼尼松（10 mg/次，3次/d，逐渐减量）口服治疗7个月，患儿IgM降至正常（1.72 g/L），肝脾缩小（肝肋下0 cm，脾肋下0.5 cm）。2019年7月因\"面色苍黄半个月\"二次入院，精细免疫分型提示初始CD4(+)T细胞（0.386）和初始CD8(+)T细胞（0.271）比例降低，终末分化效应记忆CD8(+)T细胞（0.377）和过渡性B细胞（0.223）比例增高。患儿CD3(+)T、CD4(+)T、CD8(+)T细胞（4 125、5 213、3 497）磷酸化蛋白激酶B（AKT）的平均荧光强度峰值高于其父亲（3 434、3 312、3 058）。患儿滤泡辅助T细胞（0.299）、Th1（0.491）和类Th1（0.438）比例高于正常儿童（0.156、0.313、0.303），而Th17（0.126）和类Th17（0.188）比例低于正常儿童（0.198，0.315）。患儿T细胞衰老指标CD57比例（0.306）高于正常儿童（0.246）。 结论： APDS2患儿体液免疫和细胞免疫均有不同程度受损，激素治疗对其淋巴组织增生和自身免疫性溶血性贫血等临床症状有一定改善。.
摘要：
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